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rs387906830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906830(C;T)
Make rs387906830(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position96852853
GeneVRK1
is asnp
is mentioned by
dbSNPrs387906830
ebirs387906830
HLIrs387906830
Exacrs387906830
Varsomers387906830
Maprs387906830
PheGenIrs387906830
hapmaprs387906830
1000 genomesrs387906830
hgdprs387906830
ensemblrs387906830
gopubmedrs387906830
geneviewrs387906830
scholarrs387906830
googlers387906830
pharmgkbrs387906830
gwascentralrs387906830
openSNPrs387906830
23andMers387906830
23andMe allrs387906830
SNP Nexus

SNPshotrs387906830
SNPdbers387906830
MSV3drs387906830
GWAS Ctlgrs387906830
Max Magnitude0
ClinVar
Risk rs387906830(T;T)
Alt rs387906830(T;T)
Reference rs387906830(C;C)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 1
Variation info
Gene VRK1
CLNDBN Pontocerebellar hypoplasia type 1
Reversed 0
HGVS NC_000014.8:g.97319190C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023167.4,